Incidental Mutation 'R1601:Adgra2'
ID |
176154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgra2
|
Ensembl Gene |
ENSMUSG00000031486 |
Gene Name |
adhesion G protein-coupled receptor A2 |
Synonyms |
Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik |
MMRRC Submission |
039638-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1601 (G1)
|
Quality Score |
177 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 27600046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000178514]
|
AlphaFold |
Q91ZV8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033876
|
SMART Domains |
Protein: ENSMUSP00000033876 Gene: ENSMUSG00000031486
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
LRR
|
82 |
106 |
1.06e2 |
SMART |
LRR_TYP
|
107 |
130 |
2.71e-2 |
SMART |
LRR_TYP
|
131 |
154 |
1.28e-3 |
SMART |
LRR
|
155 |
178 |
7.38e1 |
SMART |
LRRCT
|
190 |
240 |
4.63e-6 |
SMART |
IG
|
253 |
346 |
3.49e-3 |
SMART |
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
Pfam:GPS
|
709 |
750 |
1.1e-7 |
PFAM |
Pfam:7tm_2
|
770 |
990 |
5.3e-13 |
PFAM |
transmembrane domain
|
1016 |
1038 |
N/A |
INTRINSIC |
transmembrane domain
|
1045 |
1064 |
N/A |
INTRINSIC |
low complexity region
|
1075 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000178514
|
SMART Domains |
Protein: ENSMUSP00000136277 Gene: ENSMUSG00000031486
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
LRR
|
82 |
106 |
4.4e-1 |
SMART |
LRR_TYP
|
107 |
130 |
1.1e-4 |
SMART |
LRR_TYP
|
131 |
154 |
5.3e-6 |
SMART |
LRR
|
155 |
178 |
3.1e-1 |
SMART |
LRRCT
|
190 |
240 |
2.2e-8 |
SMART |
IG
|
253 |
346 |
1.4e-5 |
SMART |
HormR
|
349 |
426 |
1.8e-4 |
SMART |
Pfam:7tm_2
|
554 |
775 |
3.2e-11 |
PFAM |
transmembrane domain
|
801 |
823 |
N/A |
INTRINSIC |
transmembrane domain
|
830 |
849 |
N/A |
INTRINSIC |
low complexity region
|
860 |
880 |
N/A |
INTRINSIC |
low complexity region
|
895 |
914 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179207
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for null mutations display fetal or perinatal lethality with CNS hemorrhage and angiogenic arrest in the CNS. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
Adgrb2 |
T |
C |
4: 129,886,630 (GRCm39) |
S257P |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,748,353 (GRCm39) |
K518E |
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,514,683 (GRCm39) |
Y64* |
probably null |
Het |
Arhgef7 |
A |
G |
8: 11,832,638 (GRCm39) |
|
probably null |
Het |
Cdc42bpa |
T |
A |
1: 179,892,566 (GRCm39) |
Y243* |
probably null |
Het |
Cdk14 |
C |
T |
5: 5,185,378 (GRCm39) |
V176M |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,175,551 (GRCm39) |
E54G |
probably damaging |
Het |
Crx |
T |
C |
7: 15,601,736 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
A |
G |
2: 170,327,611 (GRCm39) |
F511L |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,457,380 (GRCm39) |
M810V |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,527,519 (GRCm39) |
T1077A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,418,303 (GRCm39) |
D2011N |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,158 (GRCm39) |
H241L |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,774,756 (GRCm39) |
K740* |
probably null |
Het |
Enah |
A |
T |
1: 181,747,185 (GRCm39) |
L523* |
probably null |
Het |
Fabp3 |
T |
C |
4: 130,202,641 (GRCm39) |
L24P |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,172,836 (GRCm39) |
S2626P |
probably benign |
Het |
Fbxo4 |
A |
G |
15: 3,998,447 (GRCm39) |
M337T |
possibly damaging |
Het |
Gas6 |
G |
T |
8: 13,515,786 (GRCm39) |
T662N |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Hrh4 |
G |
A |
18: 13,148,955 (GRCm39) |
V106I |
possibly damaging |
Het |
Ido2 |
G |
T |
8: 25,066,205 (GRCm39) |
H20Q |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,560,974 (GRCm39) |
R613L |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,452 (GRCm39) |
S836P |
probably benign |
Het |
Kcng3 |
A |
T |
17: 83,895,768 (GRCm39) |
C233S |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,941,784 (GRCm39) |
Q625R |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,055,087 (GRCm39) |
S553G |
probably benign |
Het |
Krt82 |
A |
T |
15: 101,453,588 (GRCm39) |
I266N |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,839,538 (GRCm39) |
L736Q |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,970,329 (GRCm39) |
C138R |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,845,982 (GRCm39) |
C397R |
possibly damaging |
Het |
Me1 |
A |
C |
9: 86,560,065 (GRCm39) |
Y52D |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,575,875 (GRCm39) |
|
probably benign |
Het |
Myo18b |
G |
T |
5: 113,019,364 (GRCm39) |
Q638K |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,162,735 (GRCm39) |
L170P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,177,264 (GRCm39) |
L1359* |
probably null |
Het |
Nomo1 |
C |
A |
7: 45,696,379 (GRCm39) |
S299Y |
probably damaging |
Het |
Onecut1 |
A |
T |
9: 74,769,973 (GRCm39) |
H132L |
probably benign |
Het |
Or2b2 |
C |
A |
13: 21,887,396 (GRCm39) |
T75K |
probably damaging |
Het |
Or2w3 |
A |
T |
11: 58,556,903 (GRCm39) |
R173W |
probably damaging |
Het |
Or4e2 |
A |
C |
14: 52,687,899 (GRCm39) |
T10P |
probably benign |
Het |
Or7a41 |
A |
T |
10: 78,871,338 (GRCm39) |
Y236F |
possibly damaging |
Het |
Paqr3 |
A |
G |
5: 97,259,248 (GRCm39) |
Y19H |
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,884,926 (GRCm39) |
H140R |
possibly damaging |
Het |
Prox1 |
T |
C |
1: 189,893,203 (GRCm39) |
D414G |
probably damaging |
Het |
Ptprh |
T |
G |
7: 4,555,637 (GRCm39) |
E774A |
probably damaging |
Het |
Rnpepl1 |
A |
T |
1: 92,844,944 (GRCm39) |
D412V |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,448,396 (GRCm39) |
T259M |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,939,283 (GRCm39) |
|
probably null |
Het |
Sbno2 |
C |
T |
10: 79,896,326 (GRCm39) |
R898H |
probably damaging |
Het |
Smox |
C |
A |
2: 131,362,094 (GRCm39) |
T172N |
probably damaging |
Het |
Taf7l2 |
T |
C |
10: 115,949,521 (GRCm39) |
S2G |
probably damaging |
Het |
Tdrd9 |
C |
T |
12: 111,989,687 (GRCm39) |
R341* |
probably null |
Het |
Thrap3 |
C |
G |
4: 126,073,894 (GRCm39) |
G284A |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,238 (GRCm39) |
V271A |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,202,545 (GRCm39) |
T1637A |
probably damaging |
Het |
Tspan5 |
T |
A |
3: 138,602,596 (GRCm39) |
I166N |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,642,582 (GRCm39) |
V1398A |
probably benign |
Het |
Xbp1 |
C |
T |
11: 5,471,975 (GRCm39) |
R34W |
probably damaging |
Het |
|
Other mutations in Adgra2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:Adgra2
|
APN |
8 |
27,576,011 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01599:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01627:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01629:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01632:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01968:Adgra2
|
APN |
8 |
27,611,263 (GRCm39) |
nonsense |
probably null |
|
IGL02551:Adgra2
|
APN |
8 |
27,609,250 (GRCm39) |
missense |
probably benign |
|
IGL02820:Adgra2
|
APN |
8 |
27,607,535 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Adgra2
|
UTSW |
8 |
27,604,216 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0735:Adgra2
|
UTSW |
8 |
27,607,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R0799:Adgra2
|
UTSW |
8 |
27,602,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Adgra2
|
UTSW |
8 |
27,604,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Adgra2
|
UTSW |
8 |
27,609,852 (GRCm39) |
missense |
probably damaging |
0.99 |
R1389:Adgra2
|
UTSW |
8 |
27,601,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Adgra2
|
UTSW |
8 |
27,611,306 (GRCm39) |
nonsense |
probably null |
|
R1760:Adgra2
|
UTSW |
8 |
27,609,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Adgra2
|
UTSW |
8 |
27,601,196 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1977:Adgra2
|
UTSW |
8 |
27,605,789 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2164:Adgra2
|
UTSW |
8 |
27,604,232 (GRCm39) |
nonsense |
probably null |
|
R2181:Adgra2
|
UTSW |
8 |
27,611,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R4282:Adgra2
|
UTSW |
8 |
27,609,272 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4724:Adgra2
|
UTSW |
8 |
27,588,850 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4749:Adgra2
|
UTSW |
8 |
27,604,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R4809:Adgra2
|
UTSW |
8 |
27,600,507 (GRCm39) |
nonsense |
probably null |
|
R5718:Adgra2
|
UTSW |
8 |
27,603,514 (GRCm39) |
critical splice donor site |
probably null |
|
R6025:Adgra2
|
UTSW |
8 |
27,604,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R6078:Adgra2
|
UTSW |
8 |
27,604,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6079:Adgra2
|
UTSW |
8 |
27,604,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6138:Adgra2
|
UTSW |
8 |
27,604,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6140:Adgra2
|
UTSW |
8 |
27,605,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R6232:Adgra2
|
UTSW |
8 |
27,609,193 (GRCm39) |
missense |
probably benign |
0.19 |
R6321:Adgra2
|
UTSW |
8 |
27,604,190 (GRCm39) |
missense |
probably benign |
0.02 |
R6385:Adgra2
|
UTSW |
8 |
27,608,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R6676:Adgra2
|
UTSW |
8 |
27,601,268 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6724:Adgra2
|
UTSW |
8 |
27,604,210 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6862:Adgra2
|
UTSW |
8 |
27,603,465 (GRCm39) |
missense |
probably damaging |
0.98 |
R6862:Adgra2
|
UTSW |
8 |
27,603,464 (GRCm39) |
missense |
probably benign |
0.01 |
R7140:Adgra2
|
UTSW |
8 |
27,610,929 (GRCm39) |
critical splice donor site |
probably null |
|
R7242:Adgra2
|
UTSW |
8 |
27,612,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7861:Adgra2
|
UTSW |
8 |
27,604,485 (GRCm39) |
missense |
probably damaging |
0.98 |
R7882:Adgra2
|
UTSW |
8 |
27,607,440 (GRCm39) |
missense |
probably benign |
0.15 |
R8069:Adgra2
|
UTSW |
8 |
27,609,251 (GRCm39) |
missense |
probably benign |
0.01 |
R8146:Adgra2
|
UTSW |
8 |
27,604,202 (GRCm39) |
missense |
probably damaging |
0.99 |
R9080:Adgra2
|
UTSW |
8 |
27,604,529 (GRCm39) |
missense |
probably benign |
0.02 |
R9103:Adgra2
|
UTSW |
8 |
27,603,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R9135:Adgra2
|
UTSW |
8 |
27,610,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R9425:Adgra2
|
UTSW |
8 |
27,576,094 (GRCm39) |
missense |
probably benign |
0.04 |
R9473:Adgra2
|
UTSW |
8 |
27,610,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R9643:Adgra2
|
UTSW |
8 |
27,612,031 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9648:Adgra2
|
UTSW |
8 |
27,609,172 (GRCm39) |
missense |
probably damaging |
1.00 |
X0050:Adgra2
|
UTSW |
8 |
27,603,446 (GRCm39) |
missense |
probably benign |
0.32 |
X0062:Adgra2
|
UTSW |
8 |
27,610,834 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATCGGATTGGCTGTCTCACCTC -3'
(R):5'- GCCTAACCAACAGGCATGATGCTC -3'
Sequencing Primer
(F):5'- ggaaagggaggggaggg -3'
(R):5'- GTGTTGAATAAAGAATGGGAGTTTG -3'
|
Posted On |
2014-04-24 |